title: [Sjögren-Larsson syndrome: a novel mutation in a Moroccan child].
abstract: Sjögren-Larsson syndrome is a very rare inherited neurocutaneous disorder caused by a deficiency of microsomal enzyme fatty aldehyde dehydrogenase (FALDH). The authors report a case of typical Sjögren-Larsson syndrome in a 7-year-old Moroccan child who presented with classical symptoms (congenital ichthyosis, mental retardation, and spastic paraparesis) and epilepsy. The genetic study revealed a new mutation in the FALDH gene mapped to chromosome 17, consisting in a G109A substitution in exon 2.
authors.affiliation: Service de neurologie, explorations fonctionnelles, CHU Ibn Rochd, quartier des Hôpitaux, Casablanca, Maroc. mo.mi2@caramail.com
authors.forename: M A
authors.initials: MA
authors.lastname: Rafai
authors.forename: F Z
authors.initials: FZ
authors.lastname: Boulaajaj
authors.forename: A
authors.initials: A
authors.lastname: Seito
authors.forename: Y
authors.initials: Y
authors.lastname: Suga
authors.forename: I
authors.initials: I
authors.lastname: Slassi
authors.forename: H
authors.initials: H
authors.lastname: Fadel
mesh_terms: D000445:Aldehyde Oxidoreductases / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D009018:Morocco; D009154:Mutation; D010375:Pedigree
chemical_list: D000445:Aldehyde Oxidoreductases; C038828:long-chain-aldehyde dehydrogenase